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Somatic mutation

Pms2 Suppresses Large Expansions of the (GAA·TTC)_n Sequence in Neuronal Tissues

Rebecka L. Bourn, Irene De Biase, Ricardo Mouro Pinto, Chiranjeevi Sandi, Sahar Al-Mahdawi, Mark A. Pook, Sanjay I. Bidichandani

published 11 Oct 2012

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U2AF1 Mutations in Chinese Patients with Acute Myeloid Leukemia and Myelodysplastic Syndrome

Jun Qian, Dong-ming Yao, Jiang Lin, Wei Qian, Cui-zhu Wang, Hai-yan Chai, Jing Yang, Yun Li, Zhao-qun Deng, Ji-chun Ma, Xing-xing Chen

published 19 Sep 2012

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An Integrated Genomic and Expression Analysis of 7q Deletion in Splenic Marginal Zone Lymphoma

A. James Watkins, Rifat A. Hamoudi, Naiyan Zeng, Qingguo Yan, Yuanxue Huang, Hongxiang Liu, Jianzhong Zhang, Esteban Braggio, Rafael Fonseca, Laurence de Leval, Peter G. Isaacson, Andrew Wotherspoon, Ellen D. McPhail, Ahmet Dogan, Ming-Qing Du

published 13 Sep 2012

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Novel Somatic Mutations to PI3K Pathway Genes in Metastatic Melanoma

Austin Y. Shull, Alicia Latham-Schwark, Poornema Ramasamy, Kristin Leskoske, Dora Oroian, Marc R. Birtwistle, Phillip J. Buckhaults

published 17 Aug 2012

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Mutation Discovery in Regions of Segmental Cancer Genome Amplifications with CoNAn-SNV: A Mixture Model for Next Generation Sequencing of Tumors

Anamaria Crisan, Rodrigo Goya, Gavin Ha, Jiarui Ding, Leah M. Prentice, Arusha Oloumi, Janine Senz, Thomas Zeng, Kane Tse, Allen Delaney, Marco A. Marra, David G. Huntsman, Martin Hirst, Sam Aparicio, Sohrab Shah

published 16 Aug 2012

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High-Throughput Genotyping in Metastatic Esophageal Squamous Cell Carcinoma Identifies Phosphoinositide-3-Kinase and BRAF Mutations

Chi Hoon Maeng, Jeeyun Lee, Paul van Hummelen, Se Hoon Park, Emanuele Palescandolo, Jiryeon Jang, Ha Young Park, So Young Kang, Laura MacConaill, Kyoung-Mee Kim, Young-Mog Shim

published 03 Aug 2012

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Comprehensive Re-Sequencing of Adrenal Aldosterone Producing Lesions Reveal Three Somatic Mutations near the KCNJ5 Potassium Channel Selectivity Filter

Tobias Åkerström, Joakim Crona, Alberto Delgado Verdugo, Lee F. Starker, Kenko Cupisti, Holger S. Willenberg, Wolfram T. Knoefel, Wolfgang Saeger, Alfred Feller, Julian Ip, Patsy Soon, Martin Anlauf, Pier F. Alesina, Kurt W. Schmid, Myriam Decaussin, Pierre Levillain, Bo Wängberg, Jean-Louis Peix, Bruce Robinson, Jan Zedenius, Martin Bäckdahl, Stefano Caramuta, K. Alexander Iwen, Johan Botling, Peter Stålberg, Jean-Louis Kraimps, Henning Dralle, Per Hellman, Stan Sidhu, Gunnar Westin, Hendrik Lehnert, Martin K. Walz, Göran Åkerström, Tobias Carling, Murim Choi, Richard P. Lifton, Peyman Björklund

published 27 Jul 2012

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Mitochondrial Genome Variations in Advanced Stage Endometriosis: A Study in South Indian Population

Suresh Govatati, Nageswara Rao Tipirisetti, Shyam Perugu, Vijaya Lakshmi Kodati, Mamata Deenadayal, Vishnupriya Satti, Manjula Bhanoori, S. Shivaji

published 17 Jul 2012

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High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma

Jeeyun Lee, Paul van Hummelen, Christina Go, Emanuele Palescandolo, Jiryeon Jang, Ha Young Park, So Young Kang, Joon Oh Park, Won Ki Kang, Laura MacConaill, Kyoung-Mee Kim

published 18 Jun 2012

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New Mutations in Chronic Lymphocytic Leukemia Identified by Target Enrichment and Deep Sequencing

Elena Doménech, Gonzalo Gómez-López, Daniel Gzlez-Peña, Mar López, Beatriz Herreros, Juliane Menezes, Natalia Gómez-Lozano, Angel Carro, Osvaldo Graña, David G. Pisano, Orlando Domínguez, José A. García-Marco, Miguel A. Piris, Margarita Sánchez-Beato

published 01 Jun 2012

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Improved Somatic Mutagenesis in Zebrafish Using Transcription Activator-Like Effector Nucleases (TALENs)

Finola E. Moore, Deepak Reyon, Jeffry D. Sander, Sarah A. Martinez, Jessica S. Blackburn, Cyd Khayter, Cherie L. Ramirez, J. Keith Joung, David M. Langenau

published 24 May 2012

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Antibody Repertoires in Humanized NOD-scid-IL2Rγ^null Mice and Human B Cells Reveals Human-Like Diversification and Tolerance Checkpoints in the Mouse

Gregory C. Ippolito, Kam Hon Hoi, Sai T. Reddy, Sean M. Carroll, Xin Ge, Tobias Rogosch, Michael Zemlin, Leonard D. Shultz, Andrew D. Ellington, Carla L. VanDenBerg, George Georgiou

published 27 Apr 2012

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MicroRNA Genes and Their Target 3′-Untranslated Regions Are Infrequently Somatically Mutated in Ovarian Cancers

Georgina L. Ryland, Jennifer L. Bearfoot, Maria A. Doyle, Samantha E. Boyle, David Y. H. Choong, Simone M. Rowley, Australian Ovarian Cancer Study Group , Richard W. Tothill, Kylie L. Gorringe, Ian G. Campbell

published 20 Apr 2012

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